The impact of down-regulated SK3 expressions on Hirschsprung disease.

Abstract:

BACKGROUND:Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression's impact in HSCR patients after a properly performed pull-through surgery in an Indonesian population, a genetically distinct group within Asia. METHODS:We assessed SK3 gene expression in both the ganglionic and aganglionic colon of HSCR patients and controls colon by quantitative real-time polymerase chain reaction (RT-PCR). RESULTS:We ascertained fourteen sporadic HSCR patients and six anorectal malformation patients as controls. Quantitative RT-PCR showed that the SK3 expression was significantly lower (23-fold) in the ganglionic colon group compared to the control group (9.9 ± 4.6 vs. 5.4 ± 3.4; p = 0.044). The expression of SK3 in the aganglionic colon group was also significantly lower (43-fold) compared to the control group (10.8 ± 4.4 vs. 5.4 ± 3.4; p = 0.015). CONCLUSION:Our study shows that the down-regulated SK3 expression in ganglionic intestines might contribute to the persistent bowel symptoms following a properly performed pull-through surgery in Indonesian HSCR patients. Furthermore, this study is the first report of SK3 expression in a sample population of Asian ancestry.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Gunadi,Sunardi M,Budi NYP,Kalim AS,Iskandar K,Dwihantoro A

doi

10.1186/s12881-018-0539-3

subject

Has Abstract

pub_date

2018-02-13 00:00:00

pages

24

issue

1

issn

1471-2350

pii

10.1186/s12881-018-0539-3

journal_volume

19

pub_type

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